Human (68 sources):
Abnormal cervical curvature,
Abnormal facial shape,
Abnormality of eye movement,
Abnormality of masticatory muscle,
Abnormality of the musculature of the upper limbs,
Akinesia,
Amyoplasia,
Ankle weakness,
Cleft palate,
Cyanosis,
Cystic hygroma,
Decreased fetal movement,
Decreased miniature endplate potentials,
Decreased size of nerve terminals,
Delayed gross motor development,
Depressed nasal ridge,
Diplopia,
Drowsiness,
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation,
EMG: myopathic abnormalities,
Easy fatigability,
Edema,
Epicanthus,
Exertional dyspnea,
Facial palsy,
Fatigable weakness of neck muscles,
Fatigable weakness of respiratory muscles,
Feeding difficulties,
Fetal akinesia sequence,
Flexion contracture,
High palate,
Hip flexor weakness,
Hypertelorism,
Hypoplastic heart,
Hypotonia,
Increased susceptibility to fractures,
Intrauterine growth retardation,
Joint dislocation,
Low-set ears,
Malignant hyperthermia,
Micrognathia,
Multiple pterygia,
Muscle weakness,
Neck flexor weakness,
Neck muscle weakness,
Neonatal hypotonia,
Ophthalmoparesis,
Ophthalmoplegia,
Orthopnea,
Polyhydramnios,
Ptosis,
Pulmonary hypoplasia,
Reduced tendon reflexes,
Reduced vital capacity,
Respiratory insufficiency,
Restrictive ventilatory defect,
Scoliosis,
Short finger,
Shoulder girdle muscle weakness,
Skeletal muscle atrophy,
Thin ribs,
Thoracic kyphoscoliosis,
Triceps weakness,
Type 1 muscle fiber predominance,
Upper limb muscle weakness,
Vertebral fusion,
Weakness of long finger extensor muscles,
Weakness of the intrinsic hand muscles
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Gene expression phenotype annotations where the gene of interest has been
disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from
differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1,
FDR <= 0.05 and an absolute LogFC >= 2.